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An anaphase lag of a chromosome 21 in a Down syndrome embryo leads to a fraction of euploid cells (2n cells), phenomenon described as "aneuploidy rescue". There is considerable variability in the fraction of cells with trisomy 21, both as a whole and tissue-by-tissue. This is the cause of 1–2% of the observed Down syndromes. [4]
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
The word pedigree is a corruption of the Anglo-Norman French pé de grue or "crane's foot", either because the typical lines and split lines (each split leading to different offspring of the one parent line) resemble the thin leg and foot of a crane [4] or because such a mark was used to denote succession in pedigree charts. [5] A pedigree ...
Autosomal dominant pedigree chart. In Autosomal Dominance the chance of receiving and expressing a particular gene is 50% regardless of the sex of parent or child. Date: 22 July 2006: Source: Own work: Author: Jerome Walker: Permission (Reusing this file)
Mosaic Down syndrome: Only some cells in the person have an extra copy of chromosome 21. This genetic cause is considered rare. This genetic cause is considered rare.
A pedigree can also be used to help determine the chances for a parent to produce an offspring with a specific trait. Four different traits can be identified by pedigree chart analysis: autosomal dominant, autosomal recessive, x-linked, or y-linked.
“In the most common type of Down syndrome, there are 47 chromosomes, with the extra one being chromosome 21 — so the patient has three No. 21 chromosomes in all the cells of their body. In ...
An 8-year-old boy with Down syndrome became a hero after he alerted his 14-year-old sister of a fire in their Colorado home, helping them get out on time before it was engulfed in flames ...